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Publikationer 2008 2019

  • 22 Tidsskriftartikel
  • 5 Konferenceabstrakt i tidsskrift
  • 3 Letter
  • 1 Review
Filtrer
Letter
2015

Mutations in KCNT1 cause a spectrum of focal epilepsies

Møller, R. S., Heron, S. E., Larsen, L. H. G., Lim, C. X., Ricos, M. G., Bayly, M. A., van Kempen, M. J. A., Klinkenberg, S., Andrews, I., Kelley, K., Ronen, G. M., Callen, D., McMahon, J. M., Yendle, S. C., Carvill, G. L., Mefford, H. C., Nabbout, R., Poduri, A., Striano, P., Baglietto, M. G. & 11 flere, Zara, F., Smith, N. J., Pridmore, C., Gardella, E., Nikanorova, M., Dahl, H. A., Gellert, P., Scheffer, I. E., Gunning, B., Kragh-Olsen, B. & Dibbens, L. M., sep. 2015, I : Epilepsia. 56, 9, s. e114-20

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Frontal Lobe Epilepsy
Penetrance
Sudden Death

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

Larsen, J., Johannesen, K. M., Ek, J., Tang, S., Marini, C., Blichfeldt, S., Kibæk, M., von Spiczak, S., Weckhuysen, S., Frangu, M., Neubauer, B. A., Uldall, P., Striano, P., Zara, F., Kleiss, R., Simpson, M., Muhle, H., Nikanorova, M., Jepsen, B., Tommerup, N. & 8 flere, Stephani, U., Guerrini, R., Duno, M., Hjalgrim, H., Pal, D., Helbig, I., Møller, R. S. & MAE working group of the EuroEPINOMICS RES Consortium, dec. 2015, I : Epilepsia. 56, 12, s. e203-8

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Absence Epilepsy
Mutation
Movement Disorders
Mutation Rate
Population
2011

A balanced translocation disrupts SYNGAP1 in a patient with intellectual disability, speech impairment, and epilepsy with myoclonic absences (EMA)

Klitten, L. L., Møller, R. S., Nikanorova, M., Silahtaroglu, A., Hjalgrim, H. & Tommerup, N., 2011, I : Epilepsia. 52, 12, s. e190-e193

Publikation: Bidrag til tidsskriftLetterForskningpeer review

Mutation
Proteins
aspartic acid receptor